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rs281875221

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281875221(G;T)
Make rs281875221(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position60887479
GeneERCC8
is asnp
is mentioned by
dbSNPrs281875221
ebirs281875221
HLIrs281875221
Exacrs281875221
Varsomers281875221
Maprs281875221
PheGenIrs281875221
hapmaprs281875221
1000 genomesrs281875221
hgdprs281875221
ensemblrs281875221
gopubmedrs281875221
geneviewrs281875221
scholarrs281875221
googlers281875221
pharmgkbrs281875221
gwascentralrs281875221
openSNPrs281875221
23andMers281875221
23andMe allrs281875221
SNP Nexus

SNPshotrs281875221
SNPdbers281875221
MSV3drs281875221
GWAS Ctlgrs281875221
Max Magnitude0
ClinVar
Risk rs281875221(T;T)
Alt rs281875221(T;T)
Reference rs281875221(G;G)
Significance Pathogenic
Disease UV-sensitive syndrome 2 not provided
Variation info
Gene ERCC8
CLNDBN UV-sensitive syndrome 2 not provided
Reversed 1
HGVS NC_000005.9:g.60183306C>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000024268.2, RCV000059645.1,